corneal dystrophy—epithelial basement membrane

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corneal dystrophy—epithelial basement membrane2016-11-28T21:48:01+00:00

corneal dystrophy—epithelial basement membrane

OPHTHALMOLOGY

A condition (OMIM:121820) characterised by bilateral, anterior symmetrical intraepithelial, greyish geographic, dotted/microcystic or fingerprint-like corneal opacities that correspond to aggregates of basement membrane material which wax and wane on slit-lamp examination. The opacities have no pathologic significance, but impart a foreign-body sensation.

While corneal dystrophy—epithelial basement membrane is not regarded as hereditary, families with an autosomal dominant pattern of presentation have been described.

Pathology Abnormal, redundant basement membrane and intraepithelial lacunae filled with cellular debris.

Molecular pathology Defects of TGFBI, which encodes an RGD protein that binds to type I, II and IV collagens and plays a role in cell-collagen interactions, have been linked to map-dot-fingerprint corneal dystrophy. 

Synonyms Cogan corneal dystrophy, corneal dystrophy—anterior basement membrane, corneal dystrophy—map-dot-fingerprint type, corneal dystrophy—microcystic, EBMD, epithelial basement membrane corneal dystrophy, map-dot dystrophy, map dot fingerprint dystrophy, map dot fingerprint type dystrophy of the cornea 

References http://www.uniprot.org/uniprot/Q15582

http://www.omim.org/entry/121820

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